A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112074



Internal ID21295340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109307225..109316845hg38UCSC Ensembl
Innerchr2:109923681..109933301hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg389621
hg199621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv641n145
Supporting Variantsnssv14103356, nssv14106810, nssv14102412, nssv14103875, nssv14104580, nssv14106902, nssv14104780
Samplessample396, sample125, sample42, sample375, sample424, sample130, sample163
Known GenesMIR4266, SH3RF3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112074
Frequency
Sample Size467
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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